Gene Gene information from NCBI Gene database.
Entrez ID 8321
Gene name Frizzled class receptor 1
Gene symbol FZD1
Synonyms (NCBI Gene)
-
Chromosome 7
Chromosome location 7q21.13
Summary Members of the `frizzled` gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD1 protein contains a signal peptide, a cysteine-rich domain in the N-terminal extracellular region, 7 transmembrane domains
miRNA miRNA information provided by mirtarbase database.
177
miRTarBase ID miRNA Experiments Reference
MIRT005827 hsa-miR-204-5p Luciferase reporter assayMicroarrayqRT-PCR 21282569
MIRT017459 hsa-miR-335-5p Microarray 18185580
MIRT024292 hsa-miR-215-5p Microarray 19074876
MIRT026323 hsa-miR-192-5p Microarray 19074876
MIRT564130 hsa-miR-1537-3p PAR-CLIP 20371350
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
E2F1 Activation 23806799
E2F1 Unknown 20051274
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
59
GO ID Ontology Definition Evidence Reference
GO:0003149 Process Membranous septum morphogenesis IEA
GO:0003150 Process Muscular septum morphogenesis IEA
GO:0003151 Process Outflow tract morphogenesis IEA
GO:0004888 Function Transmembrane signaling receptor activity IEA
GO:0004930 Function G protein-coupled receptor activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603408 4038 ENSG00000157240
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9UP38
Protein name Frizzled-1 (Fz-1) (hFz1) (FzE1)
Protein function Receptor for Wnt proteins (PubMed:10557084). Activated by WNT3A, WNT3, WNT1 and to a lesser extent WNT2, but apparently not by WNT4, WNT5A, WNT5B, WNT6, WNT7A or WNT7B (PubMed:10557084). Contradictory results showing activation by WNT7B have bee
PDB 8J9N , 8J9O
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF01392 Fz 116 223 Fz domain Domain
PF01534 Frizzled 310 637 Frizzled/Smoothened family membrane region Family
Tissue specificity TISSUE SPECIFICITY: Expressed in adult heart, placenta, lung, kidney, pancreas, prostate, and ovary and in fetal lung and kidney. {ECO:0000269|PubMed:9813155}.
Sequence
Sequence length 647
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  mTOR signaling pathway
Wnt signaling pathway
Hippo signaling pathway
Signaling pathways regulating pluripotency of stem cells
Melanogenesis
Cushing syndrome
Alzheimer disease
Pathways of neurodegeneration - multiple diseases
Human papillomavirus infection
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Breast cancer
Hepatocellular carcinoma
Gastric cancer
  PCP/CE pathway
Asymmetric localization of PCP proteins
Disassembly of the destruction complex and recruitment of AXIN to the membrane
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
DENTAL CARIES GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adenoma Adenoma BEFREE 30622113
★☆☆☆☆
Found in Text Mining only
Adenomatous Polyposis Coli Multiple polyposis syndrome BEFREE 29533772
★☆☆☆☆
Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA Syndromic microphthalmia BEFREE 28921449
★☆☆☆☆
Found in Text Mining only
Ataxia Telangiectasia Ataxia telangiectasia Pubtator 30679601 Associate
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly BEFREE 30719180
★☆☆☆☆
Found in Text Mining only
Brachydactyly Brachydactyly Pubtator 30719180 Associate
★☆☆☆☆
Found in Text Mining only
Brain Infarction Brain Infarction BEFREE 29954850
★☆☆☆☆
Found in Text Mining only
Breast Carcinoma Breast Carcinoma BEFREE 15492823, 22484497, 25209439, 27859262, 28215225
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 35660418 Associate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 28921449 Associate
★☆☆☆☆
Found in Text Mining only